CD44

Chr 11

CD44 molecule (IN blood group)

Also known as: CDW44, CSPG8, ECM-III, ECMR-III, H-CAM, HCELL, HUTCH-1, HUTCH-I

NCBI Gene: 960 ENSG00000026508 UniProt: P16070 OMIM: 107269

CD44 encodes a cell-surface glycoprotein that serves as a receptor for hyaluronic acid and functions in cell-cell interactions, cell adhesion, and migration by assembling signaling complexes that coordinate cytoskeletal reorganization. Mutations in CD44 are associated with blood group Indian system variants, which typically represent benign polymorphisms rather than disease-causing mutations. The gene shows low constraint to loss-of-function variants (pLI near zero), suggesting haploinsufficiency is unlikely to cause severe developmental phenotypes.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

[Blood group, Indian system]MIM #609027

Active trials

2268

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.66

LOEUF

Multiple*

Mechanism· predicted

📖

GeneReview available — CD44

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.66LOEUF

pLI 0.000

Z-score 3.25

OE 0.45 (0.31–0.66)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.84Z-score

OE missense 0.88 (0.81–0.96)

358 obs / 405.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.45 (0.31–0.66)

0≤0.351.4

Missense OE?0.88 (0.81–0.96)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 18 / 40.2Missense obs/exp: 358 / 405.7Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CD44 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

📖

GeneReview available — CD44

Authoritative clinical overview · NCBI Bookshelf · Recommended first read

Open GeneReview ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Pancreas Cancer

Prospective Cohort Study of Pancreatic Cancer Patients Treated With Proton Beam Therapy

ENROLLING BY INVITATION

NCT04466189National Cancer Center, KoreaStarted 2018-09-21

Liver Cancer

Prospective Cohort Study of Liver Cancer Patients Treated With Proton Beam Therapy

ENROLLING BY INVITATION

NCT04466124National Cancer Center, KoreaStarted 2018-09-21

Liver Cancer Patients Treated With Proton Beam Therapy

Recurrent Glioblastoma IDH Wildtype

A Clinical Trial of P134 Cells in Recurrent Glioblastoma

RECRUITING

NCT07318818Phase PHASE1, PHASE2Tasly Pharmaceutical Group Co., LtdStarted 2026-01-05

P134 cell injection

EndometriosisImmunityMicrobiota

Innate Immunity, MIcrobiota and Inovative Treatments in Endometriosis

NOT YET RECRUITING

NCT07078435Phase NAUniversity Hospital, GrenobleStarted 2025-09-09

surgery (any volume) and / or pharmaceuticals treatment initiated or planned or only dynamic observation, in accordance with current clinical guidelinesBlood testStool samples

Acute Myeloid Leukemia

Role of Adrenomedullin in Leukemic Endosteal/Vascular Niches

ACTIVE NOT RECRUITING

NCT04460963Phase NAGruppo Italiano Malattie EMatologiche dell'AdultoStarted 2021-06-09

Adrenomedullin

Non-Muscle Invasive Bladder Urothelial CarcinomaRecurrent Non-Muscle Invasive Bladder Urothelial Carcinoma

A Randomized Trial of Bicalutamide in Non-Muscle Invasive Bladder Cancer

RECRUITING

NCT05521698Phase PHASE1University of Wisconsin, MadisonStarted 2026-06-25

BicalutamideBiopsy ProcedureBiospecimen Collection

Type1diabetes

Crosstalk Between Mucosal-Associated Invariant T (MAIT) Cells and the Gut Microbiota and Mucosa in the Development of Type 1 Diabetes in Children

RECRUITING

NCT05054361Institut National de la Santé Et de la Recherche Médicale, FranceStarted 2022-01-01

MAIT cells analysisMAIT cytokines production analysisLactulose/Mannitol Test

Glioma

Clinical Study for the Safety and Therapeutic Efficacy of the AI-QMMM Designed TamavaqTM Personalised Vaccine in Patients With Newly Diagnosed Glioma.

RECRUITING

NCT07077616Phase EARLY_PHASE1Biogenea Pharmaceuticals Ltd.Started 2025-07-01

Biological: personalized vaccine Based on genetic and transcriptional sequencing information, personalized peptide vaccines would be designed and produced;

AsthmaAtherosclerosisMetabolic Syndrome

Study of the Effect of Innate on the Inflammatory Response to Endotoxin

RECRUITING

NCT01143480National Institute of Environmental Health Sciences (NIEHS)Started 2012-07-30

Vascular Complications

Prospective Exploration of Vascular Complications Associated With the Use of Immune Checkpoint Inhibitors

NOT YET RECRUITING

NCT07535944University Hospital, RouenStarted 2026-06-01

Evaluation of the vascular impact of ICIs (Immune Checkpoint Inhibitors)